Variant #0000074598 (NC_000007.13:g.(6027252_6029430)_(6048737_?)del, PMS2(NM_000535.5):c.(?_-87)_(1144+1_1145-1)del)
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(6027252_6029430)_(6048737_?)del |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
PMS2_000179 See all 3 reported entries |
Variant remarks |
Insight class: 5 |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
InSiGHT - John-Paul Plazzer |

Variant on transcripts
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